DDBDRAFT_0214891 antibody, DDBDRAFT_0219834 antibody, DDB_0214891 antibody, DDB_0219834 antibody, ABC39 antibody, ALDL1 antibody, ALDR antibody, ALDRP antibody, hALDR antibody, ATP binding cassette subfamily D member 2 antibody, ABC transporter D family protein antibody, ATP-binding cassette sub-family D member 2 antibody, ATP-binding cassette, sub-family D (ALD), member 2 antibody, ABCD2 antibody, abcD2 antibody, LOC100549247 antibody, abcd2 antibody, LOC100640478 antibody, Abcd2 antibody
Background
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown, however this protein is speculated to function as a dimerization partner of ABCD1 and/or other peroxisomal ABC transporters. Mutations in this gene have been observed in patients with adrenoleukodystrophy, a severe demyelinating disease. This gene has been identified as a candidate for a modifier gene, accounting for the extreme variation among adrenoleukodystrophy phenotypes. This gene is also a candidate for a complement group of Zellweger syndrome, a genetically heterogeneous disorder of peroxisomal biogenesis.Synonyms: ALD1, ALDL1, ALDRP, ATP-binding cassette sub-family D member 2, Adrenoleukodystrophy-like 1, Adrenoleukodystrophy-related protein